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Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene

✍ Scribed by P. Ianakiev; M.J. van Baren; M.J. Daly; S.P.A. Toledo; M.G. Cavalcanti; J. Correa Neto; E. Lemos Silveira; A. Freire-Maia; P. Heutink; M.W. Kilpatrick; P. Tsipouras


Book ID
117853510
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
320 KB
Volume
68
Category
Article
ISSN
0002-9297

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✍ J. Horst; G. Assum; E. U. Griese; A. Eigel; W. Hampl; E. Kohne 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 473 KB

DNA restriction, molecular cloning, and sequencing methods have been used to characterize the mutation leading to the methemoglobinemia HbM Iwate. It could be demonstrated that the HbM Iwate defect is caused by a point mutation involving a transition from C to T in the first position of codon 87 of